rs11793637

Homo sapiens
A>G / A>T
PHF2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0475 (14189/29874,GnomAD)
G=0486 (14178/29118,TOPMED)
G=0424 (2121/5008,1000G)
A==0498 (1920/3854,ALSPAC)
G=0492 (1823/3708,TWINSUK)
chr9:93653617 (GRCh38.p7) (9q22.31)
AD
GWASdb2
1   publication(s)
See rs on genome
136 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.93653617A>G
GRCh38.p7 chr 9NC_000009.12:g.93653617A>T
GRCh37.p13 chr 9NC_000009.11:g.96415899A>G
GRCh37.p13 chr 9NC_000009.11:g.96415899A>T
PHF2 RefSeqGeneNG_047001.1:g.81991A>G
PHF2 RefSeqGeneNG_047001.1:g.81991A>T

Gene: PHF2, PHD finger protein 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PHF2 transcriptNM_005392.3:c.N/AIntron Variant
PHF2 transcript variant X1XM_005252051.2:c.N/AIntron Variant
PHF2 transcript variant X2XM_006717143.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.461G=0.539
1000GenomesAmericanSub694A=0.590G=0.410
1000GenomesEast AsianSub1008A=0.544G=0.456
1000GenomesEuropeSub1006A=0.525G=0.475
1000GenomesGlobalStudy-wide5008A=0.576G=0.424
1000GenomesSouth AsianSub978A=0.810G=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.498G=0.502
The Genome Aggregation DatabaseAfricanSub8686A=0.485G=0.515
The Genome Aggregation DatabaseAmericanSub838A=0.580G=0.42,
The Genome Aggregation DatabaseEast AsianSub1612A=0.566G=0.434
The Genome Aggregation DatabaseEuropeSub18436A=0.456G=0.543
The Genome Aggregation DatabaseGlobalStudy-wide29874A=0.475G=0.525
The Genome Aggregation DatabaseOtherSub302A=0.540G=0.46,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.513G=0.486
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.508G=0.492
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs117936370.000555alcohol dependence21314694

eQTL of rs11793637 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs11793637 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr98074153380741620E067-38138
chr98074180380741981E067-37777
chr98074227380742966E067-36792
chr98074587680746044E067-33714
chr98074618280746222E067-33536
chr98074702080747151E067-32607
chr98074721480747328E067-32430
chr98075971180759862E067-19896
chr98075987880759966E067-19792
chr98076000580760367E067-19391
chr98076040580760548E067-19210
chr98080218080802434E06722422
chr98080259980802709E06722841
chr98080276080803015E06723002
chr98080308980803279E06723331
chr98080352180803724E06723763
chr98080377080803866E06724012
chr98080392980803979E06724171
chr98082855580829060E06748797
chr98082912380829214E06749365
chr98082927380829458E06749515
chr98082953180829713E06749773
chr98074153380741620E068-38138
chr98074180380741981E068-37777
chr98074227380742966E068-36792
chr98075971180759862E068-19896
chr98075987880759966E068-19792
chr98076000580760367E068-19391
chr98076040580760548E068-19210
chr98080276080803015E06823002
chr98080308980803279E06823331
chr98082789280828163E06848134
chr98082839180828488E06848633
chr98082855580829060E06848797
chr98082912380829214E06849365
chr98082927380829458E06849515
chr98082953180829713E06849773
chr98073613180736318E069-43440
chr98073634780736706E069-43052
chr98074153380741620E069-38138
chr98074180380741981E069-37777
chr98074227380742966E069-36792
chr98074499380745495E069-34263
chr98074587680746044E069-33714
chr98074618280746222E069-33536
chr98074702080747151E069-32607
chr98074721480747328E069-32430
chr98075971180759862E069-19896
chr98075987880759966E069-19792
chr98076000580760367E069-19391
chr98076040580760548E069-19210
chr98080308980803279E06923331
chr98080352180803724E06923763
chr98080377080803866E06924012
chr98080392980803979E06924171
chr98082789280828163E06948134
chr98082839180828488E06948633
chr98082912380829214E06949365
chr98082927380829458E06949515
chr98082953180829713E06949773
chr98074153380741620E071-38138
chr98074180380741981E071-37777
chr98074499380745495E071-34263
chr98074587680746044E071-33714
chr98074618280746222E071-33536
chr98074702080747151E071-32607
chr98074721480747328E071-32430
chr98075971180759862E071-19896
chr98075987880759966E071-19792
chr98076000580760367E071-19391
chr98076040580760548E071-19210
chr98078432580784414E0714567
chr98080259980802709E07122841
chr98080276080803015E07123002
chr98080308980803279E07123331
chr98080352180803724E07123763
chr98080377080803866E07124012
chr98080392980803979E07124171
chr98082789280828163E07148134
chr98082839180828488E07148633
chr98082912380829214E07149365
chr98082927380829458E07149515
chr98082953180829713E07149773
chr98073613180736318E072-43440
chr98073634780736706E072-43052
chr98074153380741620E072-38138
chr98074180380741981E072-37777
chr98074227380742966E072-36792
chr98074499380745495E072-34263
chr98074587680746044E072-33714
chr98074618280746222E072-33536
chr98074702080747151E072-32607
chr98074721480747328E072-32430
chr98075971180759862E072-19896
chr98075987880759966E072-19792
chr98076000580760367E072-19391
chr98080259980802709E07222841
chr98080276080803015E07223002
chr98080308980803279E07223331
chr98082839180828488E07248633
chr98082855580829060E07248797
chr98082912380829214E07249365
chr98082927380829458E07249515
chr98082953180829713E07249773
chr98074153380741620E073-38138
chr98074180380741981E073-37777
chr98074227380742966E073-36792
chr98073613180736318E074-43440
chr98073634780736706E074-43052
chr98074153380741620E074-38138
chr98074180380741981E074-37777
chr98074499380745495E074-34263
chr98074587680746044E074-33714
chr98074618280746222E074-33536
chr98074702080747151E074-32607
chr98074721480747328E074-32430
chr98074800880748072E074-31686
chr98075971180759862E074-19896
chr98075987880759966E074-19792
chr98076000580760367E074-19391
chr98076040580760548E074-19210
chr98078432580784414E0744567
chr98080259980802709E07422841
chr98080276080803015E07423002
chr98080308980803279E07423331
chr98080352180803724E07423763
chr98080377080803866E07424012
chr98080392980803979E07424171
chr98080398180805010E07424223
chr98082709480827885E07447336
chr98082789280828163E07448134
chr98082839180828488E07448633
chr98082855580829060E07448797
chr98082912380829214E07449365
chr98082927380829458E07449515
chr98082953180829713E07449773